Variant #0000630866 (NC_000017.10:g.62048581A>G, SCN4A(NM_000334.4):c.644T>C)

Individual ID 00275576
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.62048581A>G
DNA change (hg38) g.63971221A>G
Published as -
ISCN -
DB-ID SCN4A_000221 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Raffaella Brugnoni
Database submission license No license selected
Created by Raffaella Brugnoni
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SCN4A NM_000334.4 +?/. 5 c.644T>C r.(?) p.(Ile215Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000276734 DNA SEQ - - SCN4A 1 Raffaella Brugnoni